The Tutorial will provide an introduction to ontology methods and technology for students and researchers. Topics highlighted in the tutorial will be of particular interest to individuals at institutions conducting clinical and translational research, including institutions which have or are interested in obtaining CTSA (Clinical and Translational Science Award) grants.

The Workshop will provide an opportunity for those involved in ontology-related projects in the field of clinical and translational science to present on-going work and to review what has been achieved thus far. It will conclude with consideration of plans and strategies for enhanced coordination of ontology development initiatives in the field of clinical and translational science in the future.

Workshop Day 1: Wednesday, April 25, 9am-5pm (Draft Schedule)

The principles and practice of data governance, as undertaken across the Mayo Clinic enterprise, will be reviewed and discussed, with particular emphasis on vocabulary harmonization and practice using NCBO tools for research. Extension to larger-scale consortia including the ONC HIT Standards Committee,SHARPn, ISO, and CIMI will be considered.

Joseph M. Gunnels and Jihad S. Obeid (Medical University of South Carolina): An Ontology for Informed Consents and Other Research Permissions

During the development of a comprehensive system for managing informed consents and permissions for research involving human participants, considerable effort is dedicated to laying down the foundation for a semantic web infrastructure and an underlying ontology to help standardize the development of electronic informed consents and the capture of underlying data. The objective is to allow future connections with other semantic web applications and pooling of data from multiple research projects.

VIVO is a platform for managing researcher profiles at or across institutions in support of research expertise location. eagle-i is a system for researchers to share and search for research resources. Both VIVO and eagle-i are ontology-driven, and thereby enable publication of Linked Open Data and complex queries regarding expertise and funding outcomes in the translational science domain. We describe how VIVO and eagle-i ontologies reuse domain standard ontologies for maximum interoperability, and show how they are being used by software applications in the context of the CTSAs.

Jessica Tenenbaum (Duke): Ontologies for Omic-Scale Datasets

The use of "omic"-scale biomarkers to enable personalized medicine is becoming an increasingly important facet of translational biomedical research. Ontologies such as the Gene Ontology (GO) and the Ontology for Biomedical Investigations (OBI) can be used to facilitate data sharing, re-use, integration, and querying. This presentation will cover some of the more commonly used ontologies and how they may be applied to these ends.

Harold Lehmann (Baltimore): The Human Studies Database (HSDB) and the Ontology of Clinical Research (OCRe)

Information about disease pathogenesis and disease course is available almost exclusively as free text and is therefore not easily accessible for query and analysis. We are addressing this problem by developing an ontology-driven NLP system for the mapping of basic pathology knowledge from free text to terms from OBO Foundry ontologies. In particular, we are using the Ontology of General Medical Science, with its tripartite structure of disease-disorder-disease_course, as the basic framework for the system. We will discuss preliminary results and describe planned use cases.

Changes in biomedical science, public policy, information technology, and electronic heath record (EHR) adoption have converged recently to enable a transformation in the delivery, efficiency, and effectiveness of health care. The true richness and complexity of health records lies within the clinical notes, which are free-text reports written by doctors and nurses in their daily practice. We have developed a scalable annotation and analysis workflow that uses public biomedical ontologies and is based on the term recognition tools developed by the National Center for Biomedical Ontology (NCBO). For further details see here

Workshop Day 2: Thursday, April 26, 9am-4pm (Draft Schedule)

9:00am EHR, Ontology and Interoperability

Rob Wynden (UCSF): The CTSA Health Ontology Mapper (HOM).

The CTSA Health Ontology Mapper is an open source project to translate locally encoded patient encounter data, claims data and notes into standard biomedical terminologies by leveraging a real-time integration with the NCBO BioPortal REST services for access to biomedical ontologies and maps.

Numerous problems in the field of ontology are the consequence of (1) failure to pay attention to the instances about which we are collecting data, and (2) the lack of formal mechanisms to track instances and instance data, to relate instance data properly to representational units in ontologies, and to represent all these things unambiguously in the context of EHR data. This presentation will demonstrate Referent Tracking as a solution to these deficiencies with application to various particular use cases such as demographics data.